ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827314285
Gene: AMDHD2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317378.1:p.Glu157Lys
CA7844792
NM_001330449.2:c.469G>A