ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139754717
Gene: ANKH
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_473368.1:p.Ala435Val
CA3208848
NM_054027.6:c.1304C>T