ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA202974
Gene: AMPD1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000027.2:p.Gln189His
NM_000036.2:c.567G>C
NM_000036.2:c.567G>T