ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA268160
Gene: BRCA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000112213
RCV001315067
RCV003157380
ClinVar Variation:
55056
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Asp1314Asn
CA002528
NM_007294.4:c.3940G>A