ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580522200
Gene: AMDHD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689648.2:p.Lys376Arg
CA386082570
NM_152435.3:c.1127A>G