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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:
CA1206196029
Gene: FIRRM
HGNC
NCBI
Linked Data
dbSNP Id:
rs1305421090
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.169681827T>C , CM000663.2:g.169681827T>C
GRCh38
NC_000001.10:g.169650968T>C , CM000663.1:g.169650968T>C
GRCh37
NC_000001.9:g.167917592T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000498289.5:n.518-1642T>C
XR_001738282.1:n.274-1565T>C
Search 100 bp 5'
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