ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA298579
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
182136
ClinVar RCV Id:
RCV000159958
RCV000775174
RCV001361299
RCV004019940
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Leu596Phe
CA001159
NM_007294.4:c.1786C>T