ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829681683
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
823906
ClinVar RCV Id:
RCV001020561
RCV001212287
RCV003230620
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Val1181Phe
CA10594883
NM_007294.4:c.3541G>T