ClinGen Allele Registry
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Canonical Allele Identifier:
PA253433
Gene: ANKH
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_473368.1:p.Leu334Arg
NM_054027.6:c.1001T>G