ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA327980
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000520251
RCV000614231
RCV001378028
ClinVar Variation:
55466
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Asp1739Val
CA003368
NM_007294.4:c.5216A>T