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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2392433274
Gene: COL6A1
HGNC
NCBI
Linked Data
dbSNP Id:
rs575509247
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.45988995A>G , CM000683.2:g.45988995A>G
GRCh38
NC_000021.8:g.47408909A>G , CM000683.1:g.47408909A>G
GRCh37
NC_000021.7:g.46233337A>G
NCBI36
NG_008674.1:g.12247A>G , LRG_475:g.12247A>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000361866.8:c.805-89A>G
MANE Select
ENSP00000355180.3:n.805-89A>G
ENST00000361866.7:c.805-89A>G
ENSP00000355180.3:n.805-89A>G
ENST00000612273.1:c.805-89A>G
ENSP00000483630.1:n.805-89A>G
NM_001848.2:c.805-89A>G , LRG_475t1:c.805-89A>G
NP_001839.2:n.805-89A>G
NM_001848.3:c.805-89A>G
MANE Select
NP_001839.2:n.805-89A>G
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