ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580385080
Gene: AMDHD2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_057028.2:p.Thr376Arg
CA394389309
NM_015944.4:c.1127C>G