ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915993017
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000197844
RCV000221961
RCV000439478
RCV003493491
ClinVar Variation:
216668
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009230.2:p.Leu336Phe
CA059903
NM_007299.4:c.1006C>T