ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580499991
Gene: ANKH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2117421
ClinVar RCV Id:
RCV003039190
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_473368.1:p.Leu371Ser
CA359245292
NM_054027.6:c.1112T>C