ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA268164
Gene: BRCA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000112215
RCV003157381
RCV003644884
ClinVar Variation:
55057
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Pro1315His
CA002529
NM_007294.4:c.3944C>A