ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580057611
Gene: HMBS
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.052508632
Score
0.074705061
Score
0.437345083
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000181.2:p.His256Asp
CA382898064
NM_000190.4:c.766C>G