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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:
CA2698259647
Gene: ACTA1
HGNC
NCBI
Linked Data
dbSNP Id:
rs2102735333
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.229431901_229431911del , CM000663.2:g.229431901_229431911del
GRCh38
NC_000001.10:g.229567648_229567658del , CM000663.1:g.229567648_229567658del
GRCh37
NC_000001.9:g.227634271_227634281del
NCBI36
NG_006672.1:g.7186_7196del , LRG_429:g.7186_7196del
Transcript Alleles
HGVS
Amino-acid change
ENST00000366683.4:c.809-9_810del
ENST00000684723.1:c.674-9_675del
ENST00000366683.3:c.480-49_480-39del
ENSP00000355644.3:n.480-49_480-39del
ENST00000366684.7:c.809-9_810del
NM_001100.3:c.809-9_810del , LRG_429t1:c.809-9_810del
NM_001100.4:c.809-9_810del
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