ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658704710
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
491029
ClinVar RCV Id:
RCV000581830
RCV001295915
RCV003117353
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.His437Tyr
CA057149
NM_007294.4:c.1309C>T