ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2742002313
Gene: ANKH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2560146
ClinVar RCV Id:
RCV003309827
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_473368.1:p.Met342Thr
CA359245484
NM_054027.6:c.1025T>C