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ClinGen Allele Registry
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Canonical Allele Identifier:
CA5313313
Community Standard Title: NM_000787.4(DBH):c.1094T>C (p.Met365Thr)
Gene: DBH
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133647915T>C , CM000671.2:g.133647915T>C
GRCh38
NC_000009.11:g.136513037T>C , CM000671.1:g.136513037T>C
GRCh37
NC_000009.10:g.135502858T>C
NCBI36
NG_008645.1:g.16553T>C
Transcript Alleles
HGVS
Amino-acid Change
NM_000787.4:c.1094T>C
MANE Select
NP_000778.3:p.Met365Thr
ENST00000393056.8:c.1094T>C
MANE Select
ENSP00000376776.2:p.Met365Thr
NM_000787.3:c.1094T>C
NP_000778.3:p.Met365Thr
ENST00000393056.6:c.1094T>C
ENSP00000376776.2:p.Met365Thr
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